ClinVar Miner

Submissions for variant NM_000190.4(HMBS):c.958del (p.Ala320fs) (rs1057518806)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196212 SCV001366759 likely pathogenic Abdominal pain; Hepatic failure; Renal insufficiency; Anxiety; Polyneuropathy; Decreased liver function; Morphological abnormality of the central nervous system; Nausea and vomiting; Elevated urinary delta-aminolevulinic acid; Paresthesia; Acute episodes of neuropathic symptoms; Increased urinary porphobilinogen; Abnormal pineal melatonin secretion 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415138 SCV000492622 likely pathogenic Abdominal pain; Anxiety; Elevated urinary delta-aminolevulinic acid; Acute episodes of neuropathic symptoms 2016-01-21 no assertion criteria provided clinical testing

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